microcephaly 19, primary, autosomal recessive
MONDO:0054716Mondo
Findings
No curated finding names microcephaly 19, primary, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Progressive
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral visual impairmentHPOHP:0100704
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 2 reported patients
- Extra-axial cerebrospinal fluid accumulationHPOHP:0012510
- 2 of 2 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Simplified gyral patternHPOHP:0009879
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Abnormality of body heightHPOHP:0000002
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COPB2HGNC:2232
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · G2P · Autosomal recessive · 2021